|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Citrin
gptkb:Solute_carrier_family_25_member_13
|
|
gptkbp:associatedWith
|
gptkb:Citrullinemia_type_II
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSP00000361322
10165
|
|
gptkbp:enzymeCommissionNumber
|
not assigned
|
|
gptkbp:expressedIn
|
high in liver, low in other tissues
|
|
gptkbp:function
|
gptkb:aspartate/glutamate_carrier
|
|
gptkbp:gene
|
gptkb:SLC25A13
|
|
gptkbp:gene_synonym
|
gptkb:ARALAR2
gptkb:CTLN2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
HGNC:10987
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Q9Y2H7
|
|
gptkbp:length
|
675
|
|
gptkbp:locatedOnChromosome
|
7q21.3
nuclear genome
|
|
gptkbp:molecularWeight
|
74 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes adult-onset type II citrullinemia
|
|
gptkbp:OMIM
|
603859
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Slc25a13
|
|
gptkbp:pathway
|
gptkb:urea_cycle
amino acid metabolism
|
|
gptkbp:PDB
|
none available
|
|
gptkbp:protein_existence
|
evidence at protein level
|
|
gptkbp:protein_symbol
|
gptkb:CITRIN
|
|
gptkbp:proteinFamily
|
gptkb:mitochondrial_carrier_family
|
|
gptkbp:RefSeq
|
NP_004857.2
NM_004866.3
|
|
gptkbp:reviewed_in_UniProt
|
yes
|
|
gptkbp:sequenceStatus
|
reviewed
|
|
gptkbp:subcellularLocation
|
mitochondrial inner membrane
|
|
gptkbp:tissue_specificity
|
liver
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
gptkb:Q9Y2H7
|
|
gptkbp:bfsParent
|
gptkb:p150_(Vps15)
|
|
gptkbp:bfsLayer
|
6
|